Ankfy1 ankyrin repeat and FYVE domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ankfy1provided by MGI
Official Full Name: ankyrin repeat and FYVE domain containing 1provided by MGI
Primary source: MGI:MGI:1337008
See related: Ensembl:ENSMUSG00000020790 AllianceGenome:MGI:1337008
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ankhzn; ZFYVE14; mKIAA1255
Summary: Predicted to enable phosphatidylinositol phosphate binding activity and small GTPase binding activity. Predicted to be involved in cytosolic transport; endosomal vesicle fusion; and positive regulation of pinocytosis. Located in endosome membrane. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; eye; and genitourinary system. Used to study Charlevoix-Saguenay spastic ataxia. Orthologous to human ANKFY1 (ankyrin repeat and FYVE domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 14.1), large intestine adult (RPKM 13.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B4; 11 44.47 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (72580828..72662972)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (72690002..72772146)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

is essential for the formation of endocytotic and autophagocytotic vesicles.
Title: [Possible involvement of Ankhzn, a novel protein possessing FYVE domain, in cellular endocytosis and autophagocytosis in vitro].
Rab5 regulates and coordinates different endocytic mechanisms through its effector Rabankyrin-5
Title: The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AB011370 (e-PCR)
- UniSTS:185891

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi to lysosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to lysosome transport	IEA Inferred from Electronic Annotation more info
involved_in Golgi to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
involved_in endosomal vesicle fusion	IEA Inferred from Electronic Annotation more info
involved_in endosomal vesicle fusion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of pinocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of pinocytosis	ISO Inferred from Sequence Orthology more info
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in macropinosome	IEA Inferred from Electronic Annotation more info
located_in macropinosome	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
part_of retromer complex	IEA Inferred from Electronic Annotation more info
part_of retromer complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: rabankyrin-5

Names: Rabankyrin-5; ankyrin repeat and FYVE domain-containing protein 1; ankyrin repeat hooked to a zinc finger motif; ankyrin repeat hooked to zinc finger motif; ankyrin repeats hooked to a zinc finger motif; rank-5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009671.5 → NP_033801.4 rabankyrin-5

See identical proteins and their annotated locations for NP_033801.4

Status: VALIDATED

Source sequence(s)

AL663082, AL808023

Consensus CDS

CCDS24989.1

UniProtKB/Swiss-Prot

B1ATS3, O54807, Q80TG6, Q80UH8, Q810B6

UniProtKB/TrEMBL

B7ZP20

Related

ENSMUSP00000118751.2, ENSMUST00000155998.2

Conserved Domains (8) summary

smart00225
Location:69 → 156

BTB; Broad-Complex, Tramtrack and Bric a brac

smart00875
Location:167 → 235

BACK; BTB And C-terminal Kelch

cd00204
Location:866 → 992

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd15728
Location:1101 → 1163

FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

pfam00651
Location:61 → 156

BTB; BTB/POZ domain

pfam12796
Location:875 → 969

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:353 → 408

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:726 → 767

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

72580828..72662972

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245484.2 → XP_030101344.1 rabankyrin-5 isoform X2

Conserved Domains (4) summary

PHA02876
Location:22 → 384

PHA02876; ankyrin repeat protein; Provisional

PHA03095
Location:247 → 538

PHA03095; ankyrin-like protein; Provisional

cd15728
Location:646 → 708

FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

sd00045
Location:271 → 312

ANK; ANK repeat [structural motif]
XM_036156245.1 → XP_036012138.1 rabankyrin-5 isoform X1

UniProtKB/TrEMBL

B7ZP20

Conserved Domains (7) summary

PHA03095
Location:544 → 835

PHA03095; ankyrin-like protein; Provisional

COG0666
Location:391 → 590

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd15728
Location:943 → 1005

FYVE_ANFY1; FYVE domain found in ankyrin repeat and FYVE domain-containing protein 1 (ANFY1) and similar proteins

sd00045
Location:568 → 609

ANK; ANK repeat [structural motif]

cd18501
Location:4 → 92

BACK_ANKFY1_Rank5; BACK (BTB and C-terminal Kelch) domain found in rabankyrin-5 (Rank-5)

pfam13637
Location:101 → 151

Ank_4; Ankyrin repeats (many copies)

cl39094
Location:149 → 411

Ank_2; Ankyrin repeats (3 copies)